research Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart?
Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
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research Stanowisko Polskiego Towarzystwa Endokrynologicznego, Polskiego Towarzystwa Ginekologów i Położników oraz Polskiego Towarzystwa Endokrynologii Ginekologicznej w sprawie diagnostyki i leczenia zespołu policystycznych jajników
Polish medical societies recommend personalized treatment for PCOS based on the patient's specific symptoms and use the Rotterdam criteria for diagnosis.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research Medical Notes in Parliament
Sodium valproate improved epilepsy control in most children but often caused weight gain and other mild side effects.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Uterus Hyperplasia and Increased Carcinogen-Induced Tumorigenesis in Mice Carrying a Targeted Mutation of the Chk2 Phosphorylation Site in Brca1
Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
research 780 Novel mechanism of UVB-mediated pigmentation through the axis of ATP-P2X7
Scientists discovered a new way UVB light increases skin pigmentation through the ATP-P2X7 pathway.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Selenium status in Sudanese children with protein-calorie malnutrition.
Sudanese children with severe malnutrition have low selenium levels, which may affect their recovery.
research #6180 OXALATE NEPHROPATHY SECONDARY TO ENTERIC HYPEROXALURIA: A RARE CAUSE OF END STAGE RENAL FAILURE – A REPORT OF 2 CASES
Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.
research 576 INTASYL PH-762: Intratumoral immunotherapy targeting PD-1
PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research IRON DEFICIENCY: AN UNDER-RECOGNIZED PROBLEM IN KIDNEY TRANSPLANTATION. RISKS OF IRON TREATMENT.
Iron deficiency is common in kidney transplant patients, and while iron treatment helps, it can cause high red blood cell levels.